A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234913



Internal ID22373155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:73287485..73299502hg38UCSC Ensembl
Outerchr14:73754193..73766210hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg381041
hg191041
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257783, nssv14257785, nssv14257790, nssv14257788, nssv14257791, nssv14257786, nssv14257784, nssv14257789, nssv14257787
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesNUMB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234913
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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